Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs771138120
rs771138120
CDKN2A
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.010 1.000 1 2003 2003
dbSNP: rs79903863
rs79903863
PDE11A
1 2 177669537 stop gained C/A;G;T snv 2.2E-04; 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs76308115
rs76308115
PDE11A
5 0.851 0.080 2 178014454 stop gained G/A snv 2.9E-03 2.9E-03 0.010 1.000 1 2011 2011
dbSNP: rs6671895
rs6671895
MIR3659 ; MIR3659HG
2 1.000 0.120 1 38089354 intron variant C/A;T snv 4.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs2072499
rs2072499
SLC25A44
3 1.000 0.120 1 156199819 non coding transcript exon variant A/G snv 0.34 0.43 0.700 1.000 1 2013 2013
dbSNP: rs4888262
rs4888262
RFWD3
2 1.000 0.120 16 74636560 synonymous variant C/T snv 0.54 0.59 0.700 1.000 1 2013 2013